In April 2022, the International Rett Syndrome Foundation hosted the IRSF Rett Syndrome Scientific Meeting in advance of the foundation’s first in-person family summit in 6 years. The 2-day meeting brought together more than 150 clinical, academic, and industry experts from around the world, all working towards the common goal of developing effective treatments and therapies for Rett syndrome. Featuring a combination of oral presentations, poster presentations, and collaborative breakout discussions, some highlighted below, the meeting concluded with attendees feeling energized with new ideas for exciting partnerships to advance toward a cure for Rett syndrome.
After a welcome address from IRSF’s Chief Science Officer, Dr. Dominique Pichard, attendees heard presentations focused on understanding the normal functioning of the MeCP2 protein and the effect of its mutations. Dr. Christophe Papin (IGBMC) first presented his promising findings on MeCP2’s control of specific parts of DNA called microsatellites, followed by presentations continuing the theme of MeCP2’s function by Gabriella Chua (Rockefeller University), Dr. Ferdinando Fiumara (University of Torino), and Daniel Connolly (University of Pennsylvania).
In the day’s second session, Dr. Vincent Pasque (University of Leuven) shifted focus to MeCP2’s location on the X-chromosome and the complexity this location adds to understanding Rett syndrome, followed by presenters focused on restoring normal MeCP2 through gene therapy: Dr. Jean-Christophe Roux (Aix Marseille Université), Dr. Sarah Sinnett (UT Southwestern), and Dr. Suyash Prasad (Taysha Gene Therapies). Dr. Prasad’s presentation also included an exciting update on the just-announced clinical trial of TSHA-102, a gene therapy candidate with preliminary results expected by the end of the year.
In addition to oral presentations, attending labs and many early-career researchers shared their work-in-progress via poster presentations. A total of 42 posters were on display, containing published and unpublished data that covered a wide variety of areas relevant to Rett syndrome research, everything from molecular-level studies to research applicable to the daily lives of patients and their families. (Poster Abstracts are available in the digital meeting program here). Attendees had the opportunity to explore these posters in detail during an evening reception, before returning for a brainstorming session on key questions facing the Rett field.
Dr. Bennett Novitch (UCLA) kicked off day 2’s exciting agenda with a presentation on the effectiveness of using organoids to study Rett syndrome instead of simple cell structures. Next, Dr. Qiang Chang (UW Madison), Dr. Alysson Muotri (UCSD), and Dr. Danielle Tomasello (Whitehead Institute), each presented their findings on the topic of astrocytes in Rett patients. Then the focus shifted to mouse models of Rett syndrome: Dr. Nicoletta Landsberger (University of Milan) first presented MRI study findings; Dr. Eric Marsh (CHOP Research Institute) presented work that supports the use of EEG data as a biomarker for Rett progression; Dr. Kerry Delaney (University of Victoria) shared findings on learning and cognition; Michelle Piazza (Vanderbilt University) spoke on the effect of Ketamine on Rett mice; and, Dr. Colleen Niswender (Vanderbilt University) and Dr. Hongwei Dong (Vanderbilt University) individually presented on how the mGlu7 signaling pathway is disrupted in Rett cells.
After a networking lunch, presenters shifted gears to discuss findings related to the Rett syndrome Natural History Study and data collection from Rett families. The keynote on this subject was given by Dr. Jeff Neul (Vanderbilt Kennedy Center), who shared how the study has been instrumental in developing clinical trial readiness for the next wave of trials on the horizon, many involving experts in the room. Walter Kaufmann (Anavex Life Sciences Corp.) followed with a discussion on how to refine data gathering from Rett patients of all ages. And Kristin Phillips (Taysha Gene Therapies) closed with feedback collected from caregivers of adult Rett patients, feedback that played a role in designing this year’s gene therapy trial.
The meeting’s final session shifted to ideas to ease a Rett patient’s life now and future treatments to ease Rett syndrome symptoms. First, Dr. Bernhard Suter (Baylor College of Medicine) presented an assessment of gait in Rett patients, followed by Dr. Briana Czerwinski (Kennedy Krieger Institute) who discussed the impact of physical therapy from data collected over the last 10 years. Finally, Dr. Jeff Neul returned to the podium to present the exciting positive results of the Phase 3 Trofinetide trial (LAVENDER study). For many years, IRSF has financially supported the testing and early phase clinical trials for this compound. These results get us that much closer to providing families with the first FDA-approved treatment for Rett syndrome.
At the close of the Scientific Meeting, attendees joined the more than 500 registrants of the ASCEND Rett Syndrome National Summit for a welcome reception ahead of the family-focused event. The relationship between all the members of the Rett community and the opportunity for them to interact is crucial, and events like this can lead to the kind of mutual understanding and research focus that is game-changing for Rett families.
Our time in Nashville only scratched the surface of what we can accomplish in the future, together. These scientists left energized, with new ideas for exciting partnerships with one another, and with families, to advance toward a cure. They are committed to new and developing technologies as they continue to push the boundaries of Rett syndrome research. Now more than ever, our community of researchers, industry, and families are ALL IN for a cure for Rett syndrome.
Thank you to our Scientific Meeting organizers:
Tim Benke, MD, PhD (Children’s Hospital Colorado)
Qiang Chang, PhD (University of Wisconsin-Madison)
Nicoletta Landsberger, PhD (University of Milan)
Jeff Neul, MD, PhD (Vanderbilt Kennedy Center)
Hilde Van Esch, MD, PhD (KU Leuven)
Thank you to our generous sponsors who made this event possible:
Taysha Gene Therapies | Acadia Pharmaceuticals | Novartis | PRC-Saltillo |
EveryLife Foundation for Rare Diseases | IMC | Tobii Dynavox | Hive Networks | Beta Sigma Phi
And thank you to everyone who attended, presented, and contributed to this exciting meeting. We hope that your time in Nashville sparked fresh ideas, dialogues, and inspiration to accelerate research and ultimately create a world without Rett syndrome.
View the full 2022 IRSF Rett Syndrome Scientific Meeting Digital Program by CLICKING HERE.